Definition

A rare, inherited disorder that affects many parts of the body, especially the skin, eyes, bones, hair, and teeth. The main sign or symptom is a red blistering rash on the face that begins in early infancy. Over time, the rash can spread to the arms, legs, and buttocks and cause patchy skin coloring, areas of thin skin, and small clusters of blood vessels under the skin. Other signs and symptoms include slow growth and shorter-than-average height; little or no hair, including eyelashes and eyebrows; abnormalities of the nails, teeth, and bones; gastrointestinal problems; and blood problems. People with poikiloderma congenitale have an increased risk of developing cancer at an early age, especially osteosarcoma (a type of bone cancer), basal cell skin cancer, and squamous cell skin cancer. Poikiloderma congenitale may be caused by a mutation (change) in the RECQL4 gene. Also called Rothmund-Thomson syndrome and RTS.